HsaEX6063474 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130431367-130434123:+
Coord C1 exon
chr9:130431367-130431486
Coord A exon
chr9:130432429-130432555
Coord C2 exon
chr9:130433348-130434123
Length
127 bp
Sequences
Splice sites
3' ss Seq
TCACCAACTTCCCCATCCAGACA
3' ss Score
7.23
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
ACCTTGACGAGTGCCGCGTGAGGAACCTGTGTCAGCACGCCTGCCGCAACACTGAGGGCAGCTACCAGTGCCTGTGCCCCGCCGGCTACCGTCTGCTCCCCAGCGGGAAGAACTGCCAGG
Seq A exon
ACATCAACGAGTGCGAGGAGGAGAGCATCGAGTGTGGACCCGGCCAGATGTGCTTCAACACCCGTGGCAGCTACCAGTGTGTGGACACACCCTGTCCTGCCACCTACCGGCAGGGCCCCAGCCCTGG
Seq C2 exon
GACGTGCTTCCGGCGCTGCTCGCAGGACTGCGGCACGGGCGGCCCCTCTACGCTGCAGTACCGGCTGCTGCCGCTGCCCCTGGGCGTGCGCGCCCACCACGACGTGGCCCGCCTCACCGCCTTCTCCGAGGTCGGCGTCCCCGCCAACCGCACCGAGCTCAGCATGCTGGAGCCCGACCCCCGCAGCCCCTTCGCGCTGCGTCCGCTGCGCGCGGGCCTTGGCGCGGTCTACACCCGTCGCGCGCTCACCCGCGCCGGCCTCTACCGGCTCACCGTGCGTGCTGCGGCACCGCGCCACCAAAGCGTCTTCGTCTTGCTCATCGCCGTGTCCCCCTACCCCTACTAAACGGGAGAGGGCATTGGCGGCCGCCCTGGCGTGACCCCCGAGGAAGGGGTCGAGGAGAAGCTTGGTCCACGCCACCTGCTGTGGCAAGCGGAGCGTCATCGTCTCCCGCCCCGTGCGTCAGCGAGACCTTGGGTCAACACGACCCTGCGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'136-139,'136-138,138-139
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.011 A=0.349 C2=0.257
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=96.0)
A:
PF126622=cEGF=PD(12.5=7.0)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACACTGAGGGCAGCTACCAG
R:
CTCCAGCATGCTGAGCTCG
Band lengths:
245-372
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains